Page 48 - Clinical variability in Noonan syndrome with emphasison ear and eye
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CHAPTER 3
Table 1. Major ocular manifestations and molecular genetic findings in 25 patients clinically diagnosed as Noonan Syndrome
Patient
No
1 F,11
2 M,13
3 M,7
4 F,9
5 M,13
6 M,18
7 M,21
8 M,4
9 M,18
10 F,19
11 M,10
12 F,14
13 M,16
14 M,20
15 M,18
16 F,15
17 M,18
18 M,11
19 M,17
20 M,15
21 F,15
22 F,12
23 M,0
24 M,25
25 F,12
Vision and Refraction
External Ocular Features
RE LE
1.0 1.0 0.8 1.0 1.0 1.0
0.8 1.0 1.0 1.0 1.0 1.0 1.2 1.2 0.5 0.5
0.8 0.8 1.0 1.0 1.0 1.0 1.0 1.0 1.2 1.2 0.6 0.5 1.0 0.8 0.8 0.6 1.0 1.0 1.0 1.0 0.1 0.3 0.3 0.5 1.0 1.0
0.8 0.5 NVC NVC 0.5 0.8
1.0 1.0
≥ 1D
No No No
Astigmatism No
Myopia No Myopia
No Yes RE Yes BE Yes
BE Yes BE No BE No BE No BE Yes
BE Yes No No BE Yes BE Yes No No BE Yes BE No BE Yes BE No BE Yes BE Yes BE Yes BE Yes
BE Yes BE Yes No No
BE Yes
No BE RE (s) BE BE BE
BE BE No BE No No No No No No
No LE No No No No LE LE LE BE RE<LE BE LE BE BE (s) No BE BE No LE RE BE No No BE (s) BE
No Upward No BE Normal BE LE Downward No
BE Upward BE BE Normal No BE Upward No BE Downward No No Downward No
BE Normal No No Normal No BE Normal BE BE Upward No BE Normal BE No Normal No BE Downward No No Upward BE BE Downward No No Upward No LE Upward No No Downward No BE Downward BE
+ astigmatism
+ astigmatism
Myopia
Myopia
Myopia
Myopia
No
Myopia
Astigmatism
Myopia + astigmatism Astigmatism
No
Myopia + astigmatism No
Myopia + astigmatism
No
No
Hyperopia + astigmatism
No
+ astigmatism + astigmatism
+ astigmatism + astigmatism
No RE RE
LE
No No BE No No No
BE BE
Upward No Downward BE Upward No
Normal No
Additional findings: (n) = nystagmus; (s) = after surgery; BE = both eyes; C/D = cup/disk; F = female; LE = left eye; M = male; No = feature absent; NR = feature not examined; NVC = normal visual contact; ONH = optic nerve head; ONHH = ONH hypoplasia; RE = right eye; SEA = spherical equivalent of ametropia; TRV = tortuous retinal vessels.
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Sex,Age (yrs) Visual Acuity
Ametropia (SE) or Astigmatism
Epicanthus
Hypertelorism
Ptosis
High Eyelid Crease
Lower Eyelid Retraction
Slanting Eyelid Fissures
Lagoph thalmos
